Variant report

Variant	rs486311
Chromosome Location	chr11:65907242-65907243
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65820622..65823712-chr11:65905123..65907817,3	MCF-7	breast:
2	chr11:65833892..65843127-chr11:65900837..65907449,12	MCF-7	breast:
3	chr11:65904866..65907963-chr11:65908725..65912657,6	MCF-7	breast:
4	chr11:65906596..65908617-chr11:65908923..65911707,2	K562	blood:
5	chr11:65835157..65840095-chr11:65905234..65913819,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087365	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000255038	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1151530	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs482414	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs484983	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs526852	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs527737	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs527962	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs537497	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs539046	0.81[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs564343	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs576740	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs801734	0.85[YRI][hapmap]
rs801741	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs486311	RP11-867O8.5	cis	Artery Aorta	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65888400-65909800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:65894400-65909000	Weak transcription	K562	blood
3	chr11:65894800-65912200	Weak transcription	Thymus	Thymus
4	chr11:65895000-65909200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:65895000-65913800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:65895000-65917600	Weak transcription	HSMM	muscle
7	chr11:65895200-65907600	Weak transcription	Pancreas	Pancrea
8	chr11:65895200-65912200	Weak transcription	Lung	lung
9	chr11:65895200-65913000	Weak transcription	Psoas Muscle	Psoas
10	chr11:65895400-65909400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:65895400-65910200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:65895600-65909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:65895600-65909800	Weak transcription	NHEK	skin
14	chr11:65896600-65907800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:65896600-65912800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:65898400-65913000	Weak transcription	Spleen	Spleen
17	chr11:65900000-65909800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:65901000-65919400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:65901200-65909800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:65901200-65910800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:65902000-65912800	Weak transcription	Right Atrium	heart
22	chr11:65902200-65909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:65902200-65910400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:65902800-65907400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:65903800-65909400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:65904400-65907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:65904800-65908000	Enhancers	Primary B cells from peripheral blood	blood
28	chr11:65905200-65907400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:65905200-65909000	Weak transcription	Stomach Mucosa	stomach
30	chr11:65905200-65909200	Weak transcription	Hela-S3	cervix
31	chr11:65905200-65909600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:65905200-65909800	Weak transcription	NH-A	brain
33	chr11:65905200-65910400	Weak transcription	Fetal Heart	heart
34	chr11:65905200-65913000	Weak transcription	Aorta	Aorta
35	chr11:65905200-65947000	Weak transcription	Fetal Lung	lung
36	chr11:65905400-65909600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:65905400-65909600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:65905400-65910200	Weak transcription	NHDF-Ad	bronchial
39	chr11:65905400-65910200	Weak transcription	NHLF	lung
40	chr11:65905400-65911000	Weak transcription	Fetal Intestine Large	intestine
41	chr11:65905400-65939600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:65905600-65908800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr11:65905600-65909200	Weak transcription	Osteobl	bone
44	chr11:65905600-65909800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:65905600-65910400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:65905600-65912600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:65905800-65907600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:65905800-65909400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:65905800-65910600	Weak transcription	Small Intestine	intestine
50	chr11:65905800-65924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links